KLHL3 cdna clone
KLHL3 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Uniprot Description
KLHL3: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex may act by mediating ubiquitination of SLC12A3/NCC, thereby regulating SLC12A3/NCC subcellular location at the cell membrane. Defects in KLHL3 are the cause of Pseudohypoaldosteronism type 2D (PHA2D). A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal; Actin-binding
Chromosomal Location of Human Ortholog: 5q31
Cellular Component: cytosol
Molecular Function: protein binding; structural molecule activity; ubiquitin-protein ligase activity
Biological Process: ion homeostasis; protein ubiquitination; protein ubiquitination during ubiquitin-dependent protein catabolic process
Disease: Pseudohypoaldosteronism, Type Iid
Research Articles on KLHL3
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Product Notes
The KLHL3 klhl3 (Catalog #AAA1269018) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggagggtg aaagtgtcaa gctgagctcc cagactctga tacaggctgg ggatgatgag aagaaccaga ggacgatcac tgtcaaccct gcccacatgg ggaaagcatt caaggttatg aatgaactgc ggagtaaaca gctgttgtgt gacgtgatga ttgtggcaga agatgtcgag atagaagccc accgtgtggt cctggcagcc tgcagcccct acttctgtgc gatgttcaca ggtgacatgt ctgagagtaa agccaaaaag atagaaatca aggacgtgga tgggcagacg ctgagtaagc tgattgacta catctatact gctgaaatcg aggtgactga agagaatgtc caggtgctgc tcccggcagc cagcttgctg cagctcatgg atgttcggca gaactgctgt gacttcctgc agtctcagtt gcatcccacc aattgcctgg gcatccgtgc gtttgcagat gtacacacct gcactgacct tctgcagcag gccaatgcct acgcagagca gcactttcca gaggtgatgc taggagaaga atttcttagc ctgagtctgg accaggtgtg cagcttgata tccagcgaca agctgaccgt ttcttcagaa gagaaggtgt ttgaagctgt gatctcatgg atcaattatg agaaagaaac ccgtttagag cacatggcaa agctgatgga acatgtccga cttcctctct tacctaggga ctacctagtc caaacggttg aagaagaagc tttgataaag aataacaaca cctgtaaaga cttcctcatt gaggccatga aataccatct cctccctctg gatcagagac tattgattaa gaacccaagg accaagccca ggactccagt cagccttccc aagtag. It is sometimes possible for the material contained within the vial of "KLHL3, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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